Linked Data
ClinVar Variation Id:
369876
dbSNP Id:
rs1057516136
gnomAD v2:
1-55525192-A-G
gnomAD v4:
1-55059519-A-G
PubMed:
PMID:27765764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059519A>G , CM000663.2:g.55059519A>G | GRCh38 |
| NC_000001.10:g.55525192A>G , CM000663.1:g.55525192A>G | GRCh37 |
| NC_000001.9:g.55297780A>G | NCBI36 |
| NG_009061.1:g.24973A>G , LRG_275:g.24973A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.1537A>G | ENSP00000501161.2:p.Asn513Asp | |
| ENST00000710286.1:c.1894A>G | ENSP00000518176.1:p.Asn632Asp | |
| ENST00000673903.1:c.1162A>G | ENSP00000501257.1:p.Asn388Asp | |
| ENST00000673913.1:c.277A>G | ENSP00000501161.1:p.Asn93Asp | |
| ENST00000302118.5:c.1537A>G MANE Select | ENSP00000303208.5:p.Asn513Asp | |
| ENST00000490692.1:n.2227+872A>G | ||
| NM_174936.3:c.1537A>G , LRG_275t1:c.1537A>G | NP_777596.2:p.Asn513Asp | |
| NR_110451.1:n.1144A>G | ||
| XM_011541193.1:c.658A>G | XP_011539495.1:p.Asn220Asp | |
| NM_174936.4:c.1537A>G MANE Select | NP_777596.2:p.Asn513Asp | |
| NR_110451.2:n.1144A>G |